Formiminotransferase Cyclodeaminase Recombinant Protein | FTCD recombinant protein
Recombinant Human Formiminotransferase Cyclodeaminase
2. Standard ELISA test (checker-board analysis of positive/negative sera panels, immuno-dot test).
Introduction: Formiminotransferase cyclodeaminase is an enzyme which catalyzes the conversion of formiminoglutamateand tetrahydrofolateinto formiminotetrahydrofolateand glutamate.Formiminotransferase cyclodeaminase, a bifunctional enzyme of tetrahydrofolate synthesis, is the target antigen of anti-LC1 (liver cytosol antigen type 1) autoantibodies. Presence of LC1 autoantibodies is a marker for type 2 autoimmune hepatitis (for which anti-LKM 1/cytochrome P450 2D6 autoantibodies are a further marker).Serum LC1 autoantibody concentrations appear to fluctuate in parallel with aminotransferase levels, a particularly intriguing observation that suggests a possible role of LC1 autoreactivity in the pathogenic mechanism leading to hepatocyte injury.
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]
Uniprot Description
FTCD: Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool. Defects in FTCD are the cause of glutamate formiminotransferase deficiency (FIGLU-URIA); also known as formiminoglutamicaciduria (FIGLU-uria). It is an autosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Methyltransferase; EC 4.3.1.4; EC 2.1.2.5; Lyase; Cofactor and Vitamin Metabolism - one carbon pool by folate; Amino Acid Metabolism - histidine
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component: centriole; Golgi apparatus; cytoplasm; cytosol
Molecular Function: formimidoyltetrahydrofolate cyclodeaminase activity; glutamate formimidoyltransferase activity; folic acid binding
Biological Process: folic acid and derivative metabolic process; cytoskeleton organization and biogenesis; histidine catabolic process to glutamate and formamide; histidine catabolic process; histidine catabolic process to glutamate and formate
Disease: Formiminotransferase Deficiency
Research Articles on FTCD
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Product Notes
The FTCD ftcd (Catalog #AAA142443) is a Recombinant Protein produced from Sf9 Insect Cells and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "Formiminotransferase Cyclodeaminase, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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